K658R (p.Lys658Arg) variant of STAT3 (P40763)
K658R (p.Lys658Arg) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of STAT3-related early-onset multisystem autoimmune disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K658R (p.Lys658Arg) variant details
- p.Lys658Arg
- rs2081520204
- ClinGen CA399581976
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52886
- Likely pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.68
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Likely pathogenic (STAT3-related early-onset multisystem autoimmune disease)
- EBI: Likely pathogenic (in ADMIO1)
- UniProt: Likely pathogenic (in ADMIO1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. (PMID 36228738)
- Cited in: Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. (PMID 25038750)